corneal dystrophy, lattice type 1


corneal dystrophy, lattice type 1

An autosomal dominant (OMIM:122200) form of corneal dystrophy characterised by wispy, greyish, cotton-like threads limited to a zone between the centre of the cornea and the periphery, with slowly progressive loss of vision by the fifth or sixth decade of life.
Molecular pathology
Has been linked to defects of TGFBI, which encodes an RGD protein that binds to type I, II and IV collagens and plays a role in cell–collagen interactions.